E33K (p.Glu33Lys) variant of SLC47A1 (Q96FL8)
E33K (p.Glu33Lys) in SLC47A1 (Q96FL8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs771347017
- ClinGen CA8441922
- cosmic curated COSV54501
- ClinVar RCV004244471
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available